Literature DB >> 18074383

Glucocerebrosidase gene mutations are associated with Parkinson's disease in southern Italy.

Elvira V De Marco1, Grazia Annesi, Patrizia Tarantino, Francesca E Rocca, Giovanni Provenzano, Donatella Civitelli, Innocenza C Cirò Candiano, Ferdinanda Annesi, Sara Carrideo, Francesca Condino, Giuseppe Nicoletti, Demetrio Messina, Fabiana Novellino, Maurizio Morelli, Aldo Quattrone.   

Abstract

Recent studies have reported an association between the glucocerebrosidase (GBA) gene and Parkinson's disease (PD). To elucidate the role of this gene in our population, we screened 395 PD patients and 483 controls from southern Italy for the N370S and the L444P mutations. We found 11 patients (2.8%) carrying a heterozygous mutant GBA allele, whereas only one control subject (0.2%) had a heterozygous substitution (P = 0.0018). These results strongly suggest that Italian carriers of a GBA mutation have an increased risk of developing PD. 2007 Movement Disorder Society

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Year:  2008        PMID： 18074383     DOI： 10.1002/mds.21892

Source DB:  PubMed          Journal:  Mov Disord        ISSN： 0885-3185            Impact factor:   10.338


  33 in total

Review 1.  The role of glucocerebrosidase mutations in Parkinson disease and Lewy body disorders.

Authors:  Arash Velayati; W Haung Yu; Ellen Sidransky
Journal:  Curr Neurol Neurosci Rep       Date:  2010-05       Impact factor: 5.081

2.  Homozygosity for the MTX1 c.184T>A (p.S63T) alteration modifies the age of onset in GBA-associated Parkinson's disease.

Authors:  Ziv Gan-Or; Anat Bar-Shira; Tanya Gurevich; Nir Giladi; Avi Orr-Urtreger
Journal:  Neurogenetics       Date:  2011-08-12       Impact factor: 2.660

Review 3.  The association between mutations in the lysosomal protein glucocerebrosidase and parkinsonism.

Authors:  John DePaolo; Ozlem Goker-Alpan; Ted Samaddar; Grisel Lopez; Ellen Sidransky
Journal:  Mov Disord       Date:  2009-08-15       Impact factor: 10.338

Review 4.  GBA-Associated Parkinson's Disease and Other Synucleinopathies.

Authors:  Ziv Gan-Or; Christopher Liong; Roy N Alcalay
Journal:  Curr Neurol Neurosci Rep       Date:  2018-06-08       Impact factor: 5.081

5.  Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.

Authors:  E Sidransky; M A Nalls; J O Aasly; J Aharon-Peretz; G Annesi; E R Barbosa; A Bar-Shira; D Berg; J Bras; A Brice; C-M Chen; L N Clark; C Condroyer; E V De Marco; A Dürr; M J Eblan; S Fahn; M J Farrer; H-C Fung; Z Gan-Or; T Gasser; R Gershoni-Baruch; N Giladi; A Griffith; T Gurevich; C Januario; P Kropp; A E Lang; G-J Lee-Chen; S Lesage; K Marder; I F Mata; A Mirelman; J Mitsui; I Mizuta; G Nicoletti; C Oliveira; R Ottman; A Orr-Urtreger; L V Pereira; A Quattrone; E Rogaeva; A Rolfs; H Rosenbaum; R Rozenberg; A Samii; T Samaddar; C Schulte; M Sharma; A Singleton; M Spitz; E-K Tan; N Tayebi; T Toda; A R Troiano; S Tsuji; M Wittstock; T G Wolfsberg; Y-R Wu; C P Zabetian; Y Zhao; S G Ziegler
Journal:  N Engl J Med       Date:  2009-10-22       Impact factor: 91.245

6.  The risk of Parkinson's disease in type 1 Gaucher disease.

Authors:  Gilberto Bultron; Katherine Kacena; Daniel Pearson; Michael Boxer; Ruhua Yang; Swati Sathe; Gregory Pastores; Pramod K Mistry
Journal:  J Inherit Metab Dis       Date:  2010-02-23       Impact factor: 4.982

Review 7.  Genetic convergence of Parkinson's disease and lysosomal storage disorders.

Authors:  Hao Deng; Xiaofei Xiu; Joseph Jankovic
Journal:  Mol Neurobiol       Date:  2014-08-07       Impact factor: 5.590

8.  Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset.

Authors:  W C Nichols; N Pankratz; D K Marek; M W Pauciulo; V E Elsaesser; C A Halter; A Rudolph; J Wojcieszek; R F Pfeiffer; T Foroud
Journal:  Neurology       Date:  2008-11-05       Impact factor: 9.910

9.  Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease.

Authors:  Juliane Neumann; Jose Bras; Emma Deas; Sean S O'Sullivan; Laura Parkkinen; Robin H Lachmann; Abi Li; Janice Holton; Rita Guerreiro; Reema Paudel; Badmavady Segarane; Andrew Singleton; Andrew Lees; John Hardy; Henry Houlden; Tamas Revesz; Nicholas W Wood
Journal:  Brain       Date:  2009-03-13       Impact factor: 13.501

Review 10.  The link between the GBA gene and parkinsonism.

Authors:  Ellen Sidransky; Grisel Lopez
Journal:  Lancet Neurol       Date:  2012-11       Impact factor: 44.182
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